Leukoencephalopathy with ataxia, hypodontia, and hypomyelination

被引：65

作者：

Wolf, NI

Harting, I

Boltshauser, E

Wiegand, G

Koch, MJ

Schmitt-Mechelke, T

Martin, E

Zschocke, J

Uhlenberg, B

Hoffmann, GF

Weber, L

Ebinger, F

Rating, D

机构：

[1] Univ Heidelberg Hosp, Dept Pediat Neurol, Heidelberg, Germany

[2] Univ Heidelberg Hosp, Dept Neuroradiol, Heidelberg, Germany

[3] Univ Heidelberg Hosp, Dept Conservat Dent, Heidelberg, Germany

[4] Univ Heidelberg Hosp, Dept Human Genet, Heidelberg, Germany

[5] Univ Heidelberg Hosp, Dept Gen Paediat, Heidelberg, Germany

[6] Univ Childrens Hosp Zurich, Dept Paediat Neurol, Zurich, Switzerland

[7] Univ Childrens Hosp Zurich, Dept Diagnost Imaging, Zurich, Switzerland

[8] Dept Paediat Neurol, Kiel, Germany

[9] Childrens Hosp Lucerne, Dept Paediat Neurol, Luzern, Switzerland

[10] Charite Med Sch Berlin, Dept Neuropaediat, Berlin, Germany

来源：

NEUROLOGY | 2005年 / 64卷 / 08期

关键词：

D O I：

10.1212/01.WNL.0000158615.56071.E3

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

The authors describe four unrelated girls with a distinctive neurologic disorder with early-onset progressive ataxia and hypodontia with a characteristic pattern of delayed dentition. Cerebral MRI shows hypomyelinated white matter and cerebellar atrophy; H-1-MRS of white matter reveals a marked elevation of myo-inositol.

引用

页码：1461 / 1464

页数：4

共 10 条

[1] Leukodystrophy associated with oligodontia in a large inbred family:: Fortuitous association or new entity? [J].